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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
13
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pubmed:dateCreated |
2002-9-26
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pubmed:abstractText |
Epidemiologic studies suggest that genetic factors confer a predisposition to the formation of renal calcium stones or bone demineralization. Low serum phosphate concentrations due to a decrease in renal phosphate reabsorption have been reported in some patients with these conditions, suggesting that genetic factors leading to a decrease in renal phosphate reabsorption may contribute to them. We hypothesized that mutations in the gene coding for the main renal sodium-phosphate cotransporter (NPT2a) may be present in patients with these disorders.
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Sep
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pubmed:issn |
1533-4406
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pubmed:author |
pubmed-author:BakouhNazihaN,
pubmed-author:Benqué-BlanchetFrançoisF,
pubmed-author:DellisOlivierO,
pubmed-author:FriedlanderGérardG,
pubmed-author:GérardBénédicteB,
pubmed-author:GrandchampBernardB,
pubmed-author:HuartVirginieV,
pubmed-author:HulinPhilippeP,
pubmed-author:PlanellesGabrielleG,
pubmed-author:PriéDominiqueD,
pubmed-author:SilveCarolineC
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pubmed:copyrightInfo |
Copyright 2002 Massachusetts Medical Society
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pubmed:issnType |
Electronic
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pubmed:day |
26
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pubmed:volume |
347
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
983-91
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:12324554-Adult,
pubmed-meshheading:12324554-Animals,
pubmed-meshheading:12324554-Female,
pubmed-meshheading:12324554-Heterozygote,
pubmed-meshheading:12324554-Humans,
pubmed-meshheading:12324554-Hypophosphatemia,
pubmed-meshheading:12324554-Kidney,
pubmed-meshheading:12324554-Kidney Calculi,
pubmed-meshheading:12324554-Male,
pubmed-meshheading:12324554-Middle Aged,
pubmed-meshheading:12324554-Oocytes,
pubmed-meshheading:12324554-Osteoporosis,
pubmed-meshheading:12324554-Patch-Clamp Techniques,
pubmed-meshheading:12324554-Phosphates,
pubmed-meshheading:12324554-Point Mutation,
pubmed-meshheading:12324554-Sodium-Phosphate Cotransporter Proteins,
pubmed-meshheading:12324554-Symporters,
pubmed-meshheading:12324554-Xenopus laevis
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pubmed:year |
2002
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pubmed:articleTitle |
Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter.
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pubmed:affiliation |
Service de Physiologie-Explorations Fonctionnelles, Hôpital Bichat, Assistance Publique-Hôpitaux de Paris, Paris, France. dprie@bichat.inserm.fr
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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